Variant report

Variant	rs34182248
Chromosome Location	chr17:45321359-45321360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45319630..45322329-chr17:45330563..45332815,2	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction
ENSG00000259753	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1009312	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10438781	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10438782	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11871251	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11871407	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11871447	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12937929	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16969966	0.94[AFR][1000 genomes]
rs2015049	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037150	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2317384	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2317385	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34251886	0.82[EUR][1000 genomes]
rs34492688	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35069360	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35125273	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35439279	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35704663	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809861	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809862	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144744	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144745	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4144746	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4289057	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4541130	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55677902	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55827077	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6504788	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6504789	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6504790	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66738981	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67080286	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67544603	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67615769	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67923812	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7208170	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7210182	0.80[EUR][1000 genomes]
rs7211563	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7218524	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7218773	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7222617	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7223003	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7223766	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7224990	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7225134	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72823474	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:45316000-45321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:45317600-45322800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:45317800-45321800	Weak transcription	Fetal Stomach	stomach
5	chr17:45318000-45321800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:45318000-45322800	Weak transcription	Small Intestine	intestine
7	chr17:45318200-45321600	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:45318400-45321400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:45318400-45321600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:45318600-45321400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:45318600-45321600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:45318600-45321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:45318600-45321600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:45318600-45321600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr17:45318600-45321600	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:45318600-45321800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:45318600-45321800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:45318600-45321800	Weak transcription	Right Ventricle	heart
19	chr17:45318600-45321800	Weak transcription	Spleen	Spleen
20	chr17:45318600-45322000	Weak transcription	Lung	lung
21	chr17:45318600-45322000	Weak transcription	Osteobl	bone
22	chr17:45318600-45322200	Weak transcription	K562	blood
23	chr17:45318600-45323400	Weak transcription	NHDF-Ad	bronchial
24	chr17:45318600-45328400	Weak transcription	Fetal Heart	heart
25	chr17:45318600-45329600	Weak transcription	Left Ventricle	heart
26	chr17:45318600-45329600	Weak transcription	Right Atrium	heart
27	chr17:45318600-45330600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:45318600-45331200	Weak transcription	HSMMtube	muscle
29	chr17:45318800-45321400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:45321000-45322000	Enhancers	Primary hematopoietic stem cells	blood
31	chr17:45321000-45322400	Enhancers	Primary B cells from peripheral blood	blood
32	chr17:45321000-45322400	Enhancers	Ovary	ovary

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